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Q02575

- HEN1_HUMAN

UniProt

Q02575 - HEN1_HUMAN

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Protein

Helix-loop-helix protein 1

Gene

NHLH1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system.

GO - Molecular functioni

  1. RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
  2. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. central nervous system development Source: ProtInc
  3. positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiQ02575.

Names & Taxonomyi

Protein namesi
Recommended name:
Helix-loop-helix protein 1
Short name:
HEN-1
Alternative name(s):
Class A basic helix-loop-helix protein 35
Short name:
bHLHa35
Nescient helix loop helix 1
Short name:
NSCL-1
Gene namesi
Name:NHLH1
Synonyms:BHLHA35, HEN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:7817. NHLH1.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31619.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 133133Helix-loop-helix protein 1PRO_0000127197Add
BLAST

Proteomic databases

PRIDEiQ02575.

PTM databases

PhosphoSiteiQ02575.

Expressioni

Gene expression databases

BgeeiQ02575.
CleanExiHS_NHLH1.
ExpressionAtlasiQ02575. baseline and differential.
GenevestigatoriQ02575.

Organism-specific databases

HPAiCAB004755.
CAB033854.
HPA017943.

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein.

Protein-protein interaction databases

BioGridi110872. 7 interactions.
IntActiQ02575. 3 interactions.
STRINGi9606.ENSP00000302189.

Structurei

3D structure databases

ProteinModelPortaliQ02575.
SMRiQ02575. Positions 82-132.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini75 – 12753bHLHPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi66 – 716Poly-Arg

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG264916.
HOGENOMiHOG000016617.
HOVERGENiHBG016345.
InParanoidiQ02575.
KOiK09075.
OMAiMMLNSDA.
OrthoDBiEOG7G1V82.
PhylomeDBiQ02575.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q02575 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MMLNSDTMEL DLPPTHSETE SGFSDCGGGA GPDGAGPGGP GGGQARGPEP
60 70 80 90 100
GEPGRKDLQH LSREERRRRR RATAKYRTAH ATRERIRVEA FNLAFAELRK
110 120 130
LLPTLPPDKK LSKIEILRLA ICYISYLNHV LDV
Length:133
Mass (Da):14,618
Last modified:July 1, 1993 - v1
Checksum:iFE90B574BE16D2C6
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M97507 Genomic DNA. Translation: AAA58634.1.
BC013789 mRNA. Translation: AAH13789.1.
CCDSiCCDS1204.1.
PIRiB46167. A45075.
RefSeqiNP_005589.1. NM_005598.3.
UniGeneiHs.30956.

Genome annotation databases

EnsembliENST00000302101; ENSP00000302189; ENSG00000171786.
GeneIDi4807.
KEGGihsa:4807.
UCSCiuc001fwa.2. human.

Polymorphism databases

DMDMi399885.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M97507 Genomic DNA. Translation: AAA58634.1 .
BC013789 mRNA. Translation: AAH13789.1 .
CCDSi CCDS1204.1.
PIRi B46167. A45075.
RefSeqi NP_005589.1. NM_005598.3.
UniGenei Hs.30956.

3D structure databases

ProteinModelPortali Q02575.
SMRi Q02575. Positions 82-132.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110872. 7 interactions.
IntActi Q02575. 3 interactions.
STRINGi 9606.ENSP00000302189.

PTM databases

PhosphoSitei Q02575.

Polymorphism databases

DMDMi 399885.

Proteomic databases

PRIDEi Q02575.

Protocols and materials databases

DNASUi 4807.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000302101 ; ENSP00000302189 ; ENSG00000171786 .
GeneIDi 4807.
KEGGi hsa:4807.
UCSCi uc001fwa.2. human.

Organism-specific databases

CTDi 4807.
GeneCardsi GC01P160336.
HGNCi HGNC:7817. NHLH1.
HPAi CAB004755.
CAB033854.
HPA017943.
MIMi 162360. gene.
neXtProti NX_Q02575.
PharmGKBi PA31619.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG264916.
HOGENOMi HOG000016617.
HOVERGENi HBG016345.
InParanoidi Q02575.
KOi K09075.
OMAi MMLNSDA.
OrthoDBi EOG7G1V82.
PhylomeDBi Q02575.

Enzyme and pathway databases

SignaLinki Q02575.

Miscellaneous databases

GeneWikii NHLH1.
GenomeRNAii 4807.
NextBioi 18524.
PROi Q02575.
SOURCEi Search...

Gene expression databases

Bgeei Q02575.
CleanExi HS_NHLH1.
ExpressionAtlasi Q02575. baseline and differential.
Genevestigatori Q02575.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
[Graphical view ]
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "HEN1 and HEN2: a subgroup of basic helix-loop-helix genes that are coexpressed in a human neuroblastoma."
    Brown L., Espinosa R. III, le Beau M.M., Siciliano M.J., Baer R.
    Proc. Natl. Acad. Sci. U.S.A. 89:8492-8496(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Brain.
  2. "A comparative structural characterization of the human NSCL-1 and NSCL-2 genes. Two basic helix-loop-helix genes expressed in the developing nervous system."
    Lipkowitz S., Gobel V., Varterasian M.L., Nakahara K., Tchorz K., Kirsch I.R.
    J. Biol. Chem. 267:21065-21071(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    Tissue: Brain.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Eye.

Entry informationi

Entry nameiHEN1_HUMAN
AccessioniPrimary (citable) accession number: Q02575
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: October 29, 2014
This is version 125 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3